Results 71 to 80 of about 7,211 (209)

First Case Report of Agnathia–Otocephaly Complex Reported in Niger

open access: yesClinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Agnathia–otocephaly complex (AOC) is an extremely rare congenital malformation resulting from a disorder of the first branchial arch. In the past, this condition was considered lethal. However, milder variants of the isolated type of AOC have been reported as non‐lethal.
Hamidou Soumana Diaouga   +3 more
wiley   +1 more source

A congenital fibular notch synostosis of the left distal leg: a case report [PDF]

open access: yesJournal of Research in Applied and Basic Medical Sciences
Background & Aims: Tibiofibular synostosis is an infrequent, limb malformation that is non-syndromic and illustrated by the union of the proximal or distal tibia and union of the proximal or distal tibial and fibular metaphysis and/ or diaphysis ...
Olubunmi Balogun   +6 more
doaj  

Prenatal Tympanic Ring Anomaly Without Microtia: A Subtle Clue Toward Severe Early‐Onset Monogenic Disorders

open access: yesPrenatal Diagnosis, Volume 46, Issue 7, Page 1096-1103, June 2026.
ABSTRACT Objective To investigate the genetic etiologies and clinical significance of fetal tympanic ring abnormalities detected during second‐trimester ultrasound in the absence of microtia. Method Between November 2019 and June 2024, we examined the fetal tympanic rings of 10,277 unselected pregnant women during the 20–22 weeks of morphology ...
Yung Hang Lam   +5 more
wiley   +1 more source

Classification of Subtypes of Apert Syndrome, Based on the Type of Vault Suture Synostosis

open access: yesPlastic and Reconstructive Surgery, Global Open, 2019
Background:. Apert syndrome patients are different in clinical pathology, including obstructive sleep apnea, cleft palate, and mental deficiency. These functional deficiencies may be due to anatomic deformities, which may be caused by different forms of ...
Xiaona Lu, MD   +9 more
doaj   +1 more source

Holoprosencephaly with Multiple Anomalies of the Craniofacial Bones-An Autopsy Report [PDF]

open access: yesJournal of Clinical and Diagnostic Research, 2013
Holoprosencephaly (HPE), a disorder which results from a failure of cleavage or the incomplete differentiation of the forebrain structures at various levels or to various degrees, is related to hereditary factors, chromosomal anomalies, cytogenetic ...
E. Aruna   +3 more
doaj   +1 more source

Non-syndromic sagittal synostosis [PDF]

open access: yes, 2015
Non-syndromic sagittal synostosis.
Darvann, Tron A   +5 more
core  

Humeroradioulnar Synostosis in an African Child: A Case Report [PDF]

open access: yes, 2013
This is a report of humeroradioulnar synostosis at left elbow, in a girl from Sokoto, Nigeria in whom there is no history of hereditary/congenital diseases. This case is the thirtieth reported in literature. This defect was not solitary.
Agaba-Idu Musa, A
core   +2 more sources

Biallelic MYH3 Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance?

open access: yesClinical Genetics, Volume 109, Issue 6, Page 1059-1063, June 2026.
A nuclear family affected by distal arthrogryposis with novel biallelic MYH3 variants, which at the heterozygous state yield a subclinical phenotype, highlighting the complexity of MYH3‐related disorders and their inheritance modes. ABSTRACT Distal arthrogryposis constitutes a highly heterogeneous group of disorders with a critical need for clear ...
Omar Zgheib   +6 more
wiley   +1 more source

DISTAL TIBIOFIBULAR SYNOSTOSIS AFTER ANKLE FRACTURE [PDF]

open access: yes, 1996
Over an eight-year period up to 1983, a total of 322 consecutive patients had operations for ankle fractures; 176 were Weber type B and 128 type C. We were able to review 230 of these patients after a mean follow-up of six years (1 to 11) including 128 ...
G. H. R. Albers   +3 more
core   +1 more source

Anatomical Considerations of Costal Abnormalities with its Clinical Significance

open access: yesArchives of Medicine and Health Sciences
Synostosis is an immobile joint created by the ossification of two bones. About 0.3% of ribs have synostosis, an unexpected radiographic finding.
B. F. Jazeela   +2 more
doaj   +1 more source

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